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Wednesday, 29 February 2012

Happy Rare Disease Day 2012!

Happy Rare Disease Day 2012! Yes, it's that jolly time of the year again, when families across the globe gather together to celebrate the myriad exciting ways in which the human body can baffle trained physicians. This year is extra special, as the fifth international Rare Disease Day falls on the 29th February, the rarest calendar date of them all. The event focuses on extending solidarity, both between patients with different rare diseases, and with society at large.

I already have a rare disease (in fact, I technically have two: TSH-oma, and hypermobility syndrome, which is now classified as a subtype of Ehlers-Danlos Syndrome. But although my hypermobility causes joint pain, it also gives me nice soft skin, so I guess you have to take the rough with the unusually smooth). I am aware, however, that many of my more healthy readers may be feeling a little left out of the rare disease jamboree today. Most rare diseases are genetic - and it's very difficult to know in advance whether you're harbouring the kind of genetic anomaly which will allow you to get better aquainted with the medical profession. So, in the interests of this year's Solidarity theme, and in case you really are that desperate to join in, I have prepared a list of my top four rare diseases that you don't need mad genes to develop. All you have to do is pick one, and get infected:

Top 4 Rare Non-Genetic Diseases

1. The Bubonic Plague
In the West, bubonic plague is now extremely rare, although the plague killed millions in the Middle Ages. Globally there are about 1000-3000 cases reported by the WHO every year. Modern antibiotics are an effective treatment if administered quickly.Upside: This one has a pleasingly retro feel. There's nothing like walking into a conference of medieval scholars and announcing you've survived the Black Death. Downside: Gangrene of the extremities, seizures, vomiting blood and extreme pain. Will I die? Mortality is 1-15% in treated cases. In untreated cases, it can be up to 90%.How do I catch it? Usually through being bitten by an infected flea.

2. Guinea Worm Disease (Dracunculiasis)Warning: this disease is available for a limited time only.
A global eradication effort began in 1980. In 1986, guinea worm was endemic in 20 countries, with 3.5 million cases across the world every year. In 2011 only four countries were still endemic for guinea worm disease, with 1,060 cases globally.Upside: If you time it right, you could be one of the last people in the world to have dracunculiasis. And there's got to be a certain number of TV interviews in that.Downside: After catching it, guinea worm has an incubation period of a year before the worm starts to travel down through the leg, causing immense amounts of burning pain, fever, nausea and monitoring. It then emerges from the skin. There's no treatment and the only way to remove the metre-long worm is to wrap the live worm around a stick and slowly wind it out - a process which can take months. And frankly: eew.Will I die? Unlikely. Risks are that the wound where the worm emerges may become infected, or if the worm is broken as it's being pulled out of the skin, it may putrefy inside the limb.How do I catch it? Drink water contaminated by water fleas which are host to guinea worm larvae - still available in South Sudan, Ethiopia, Chad, and Mali!

3. Kuru (Laughing Sickness)
The last known sufferer of kuru died in 2005, so catching this one may be tricky. Kuru was an epidemic amongst the Fore tribe of Papua New Guinea, due to their cannibalistic funeral practices, but unknown elsewhere. It's believed that the disease originated with an individual who spontaneously developed Creutzfeldt-Jakob Disease, a degenerative neurological disease caused by proteins called prions. When his or her body was consumed after death, the disease spread amongst the Fore, and there was a continuous cycle of new infections as sufferers were eaten after dying from the illness. Once cannibalism stopped, the disease began to die out, but because it can have a very long incubation period, new cases cropped up every now and again until 2005.Upside: The last known sufferer died in 2005. A new patient would be a medical celebrity.Downside: Everyone would know you're a cannibal. Oh, and you would slowly completely lose control of your body, develop severe tremors and emotional instability, become unable to speak or swallow, become incontinent, and acquire sores and necrotic ulcers.Will I die? Yes. There is no cure. The good news is that you may have an incubation period of up to 40 years before symptoms develop. The bad news is that you will die about a year after that.How do I catch it? You need to eat part of the body of someone with the disease (preferably the brain, if you can get it), or allow broken skin to come into contact with the blood or brain matter. Or you could inject yourself with it. But where's the fun in that?

4. Brain-eating Amoeba (Naegleria fowleri)
This is a nasty little unicellular parasite which is actually pretty common in warm, stagnant freshwater worldwide, but can invade the central nervous system via the nose, and then into the brain where it causes primary amoebic meningoencaphalitis. Upside: You'd definitely make it into the local paper. Only 300 confirmed cases had ever been recorded in the medical literature by 2008.Downside: Headache, vomiting, delirium, seizures and irreversible coma.Will I die? Almost certainly. As of 2008 the in-hospital case fatality rate was 97%.How do I catch it? Your best bet is swimming in infected water, or preferably by using a neti pot; weirdly, water that is safe to drink may not be safe to irrigate your nose with. But remember: the brain-eating amoeba has to get a long way up inside your nose before there's a chance of infection, so if at first you don't succeed, try again.

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About Me

I am a 23-year old girl who was diagnosed with a TSHoma (pituitary adenoma secreting thyroid-stimulating hormone, also known as a thyrotropinoma) in December 2010. This excitingly rare brain tumour appears to have been the culmination of all my childhood attempts to be "special".

As well as neoplasia, my cells enjoy mitosis, catabolism, and badminton.